“I think the most important thing about celiac disease is the recognition that it’s very common. In the United States it’s about 1% of the population, but less than 50% of individuals who have celiac disease are actually aware.
It’s difficult to diagnose, because a spectrum of clinical manifestations is extremely diverse. Almost any condition that an individual going to a physician for, has been associated with celiac disease.
Some people are very sick and other people have virtually no symptoms. There may be a peripheral neuropathy, iron deficiency anemia or vitamin B12 deficiency, dental enamel defects, dermatitis herpetiformis, osteoporosis, or irritable bowel syndrome. There are so many different manifestations of the condition.
So to have celiac disease, you have to have a specific genetic makeup and you have to be eating gluten at the time.
These genetic markers are very common in the population. Probably occurring in about 30%. Individuals who have this genetic risk probably have about a 3% risk of having celiac disease. There is increasing availability of genetic testing. And individuals might find they have these genetic markers for celiac disease. The great value in doing the genetic test for celiac disease is that it has this very high, nearly 100% negative predictive value. If you don’t have that HLA-DQ2 or DQ8, it makes it extremely unlikely to ever get celiac disease.
If an individual has HLA-DQ2 or DQ8 or both of them, what it means is the individual is at increased risk of having celiac disease. It’s probably a good indication to make sure the patient doesn’t have celiac disease. And the way we go about that is we do the blood test on the celiac antibodies. Tissue transglutaminase antibodies and the gliadin peptide antibodies. If the blood tests are positive, you need referral to a gastroenterologist for an endoscopic biopsy. Currently biopsy of the small intestine is the gold standard in the diagnosis.
Telling someone they have celiac disease is actually very important. Because they’ve got to go on a gluten free diet for the rest of their life. And that’s not an easy task. So it should be very well founded. That’s why we use the genetic results, serology results, and we use the biopsy reports. One puts all this information together, including how the patient feels, most importantly, to come up with the diagnosis of celiac disease.
There are two things when you get diagnosed with celiac disease. That’s knowing what foods to avoid, but most importantly what foods to eat. It’s not all that uncommon for people if they’re not under the guidance of a registered dietician to gain weight and their cholesterol go up.
Family members need to be screened, because if there’s an individual in a family with celiac disease all the other people in the family have about a tenfold increased risk of having it.
There’s really no doctor, dentist, surgeon, physician, who could say, ‘I don’t need to know about celiac disease.’ Because it’s common and its manifestations are very diverse, and the general population appears to be having a much greater awareness of celiac disease and other gluten related disorders.”
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